Table 1.

Comparison of MT-ATP6/8 gene variants in PD and control groups

Infant/Adult	Nucleotide	Locus	Amino acid change	R/N.R	Hm/Ht	Pompe	Control	P value
						+	+
Adult	C8406T	MT-ATPase8	p.T14I	R	Hm	1	0	0.219
	A8456C	MT-ATPase6/8	p.T31P	N.R	Hm	1	0	0.219
	G9039A	MT-ATPase6	p.M171I	R	Hm	1	0	0.219
	G9055A	MT-ATPase6	p.A177T	R	Hm	1	3	0.99
Infant	A8502T	MT-ATPase8	p.N46I	R	Hm	1	0	0.219
	C8562T	MT-ATPase6	p.P66L	R	Hm	2	0	0.047
	C8562T	MT-ATPase8	p.P66P	R	Hm	2	0	0.047
	C8684T	MT-ATPase6	p.T53I	R	Hm	1	6	0.650
	G8697A	MT-ATPase6	p.M57I	R	Hm	1	0	0.219
	T9117A	MT-ATPase6	p.I197I	N.R	Ht	1	0	0.219
	C9129T	MT-ATPase6	p.I201I	R	Hm	1	0	0.219
Both	A8524C	MT-ATPase8	p.P53P	N.R	Ht	2	0	0.047
	A8701G	MT-ATPase6	p.T59A	R	Hm	2	6	0.556
	A8860G	MT-ATPase6	p.T112A	R	Hm	24	81	0.235

R and N.R; Denote reported and not-reported respectively, Hm and Ht; Denote homoplasmy and heteroplasmy respectively, and PD; Pompe disease.